Apocrine Hidrocystomas of the Lids, Hypodontia, Palmar-Plantar Hyperkeratosis, and Onychodystrophy A New Variant of Ectodermal Dysplasia

Schöpf-Schulz-Passarge Syndrome: Further Delineation of the Phenotype and Genetic Considerations

“…Schöpf-Schulz-Passarge syndrome was first described as an autosomal recessive condition (1). On the basis of the literature review (see Table I), nine pedigrees with two or more affected siblings and healthy parents, as well as two sporadic cases with consanguineous parents (including our patient 1) fit this hypothesis (1,5,7,9,10,14,15). Conversely, in three families the disease is clearly transmitted in a dominant fashion with occasional healthy or non-penetrant carriers (3,7,12).…”

Schöpf-Schulz-Passarge Syndrome: Further Delineation of the Phenotype and Genetic Considerations

“…Schöpf-Schulz-Passarge syndrome was first described as an autosomal recessive condition (1). On the basis of the literature review (see Table I), nine pedigrees with two or more affected siblings and healthy parents, as well as two sporadic cases with consanguineous parents (including our patient 1) fit this hypothesis (1,5,7,9,10,14,15). Conversely, in three families the disease is clearly transmitted in a dominant fashion with occasional healthy or non-penetrant carriers (3,7,12).…”

Treatment of Multiple Apocrine Hidrocystomas with the Carbon Dioxide (CO2) Laser

“…Among the cases with multiple lesions, 6 patients have been described with between 2 and 6 apocrine hidrocystomas each 2,10 . Multiple apocrine hidrocystomas confined to the eyelids have been recognized as a feature of a new variant of ectodermal dysplasia in which they are associated with hypodontia, palmar‐plantar hyperkeratosis, and onychodystrophy 6 . The eyelid lesions may also occur independently, as was recently described in a patient who had 13 apocrine hidrocystomas on the lower eyelids, without other cutaneous abnormalities 5 .…”

Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Apocrine and Eccrine Differentiation

“…Due to the lack of association between histopathologic features, such as poor glandular differentiation, cellular atypia, necrosis, blood vessel invasion, tumor recurrence, metastasis, or overall outcome, all papillary adenocarcinoma should be considered malignant and necessitate intervention [ 112 ]. Several genetic alterations have been reported, including mutation of suppressor gene TP53 , somatic BRAF-V600E (serine/threonine-protein kinase B-Raf) mutation, and overexpression of FGFR2 (fibroblast growth factor receptor 2) ( Table 1 ) [ 20 , 21 , 22 ]. Etiology is unknown; however, a history of antecedent trauma has been reported in a few cases [ 7 ].…”

Schöpf-Schulz-Passarge Syndrome: Further Delineation of the Phenotype and Genetic Considerations

“…Schöpf-Schulz-Passarge syndrome was first described as an autosomal recessive condition (1). On the basis of the literature review (see Table I), nine pedigrees with two or more affected siblings and healthy parents, as well as two sporadic cases with consanguineous parents (including our patient 1) fit this hypothesis (1,5,7,9,10,14,15). Conversely, in three families the disease is clearly transmitted in a dominant fashion with occasional healthy or non-penetrant carriers (3,7,12).…”

Treatment of Multiple Apocrine Hidrocystomas with the Carbon Dioxide (CO2) Laser

“…Among the cases with multiple lesions, 6 patients have been described with between 2 and 6 apocrine hidrocystomas each 2,10 . Multiple apocrine hidrocystomas confined to the eyelids have been recognized as a feature of a new variant of ectodermal dysplasia in which they are associated with hypodontia, palmar‐plantar hyperkeratosis, and onychodystrophy 6 . The eyelid lesions may also occur independently, as was recently described in a patient who had 13 apocrine hidrocystomas on the lower eyelids, without other cutaneous abnormalities 5 .…”

Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Apocrine and Eccrine Differentiation

“…Due to the lack of association between histopathologic features, such as poor glandular differentiation, cellular atypia, necrosis, blood vessel invasion, tumor recurrence, metastasis, or overall outcome, all papillary adenocarcinoma should be considered malignant and necessitate intervention [ 112 ]. Several genetic alterations have been reported, including mutation of suppressor gene TP53 , somatic BRAF-V600E (serine/threonine-protein kinase B-Raf) mutation, and overexpression of FGFR2 (fibroblast growth factor receptor 2) ( Table 1 ) [ 20 , 21 , 22 ]. Etiology is unknown; however, a history of antecedent trauma has been reported in a few cases [ 7 ].…”

Schöpf-Schulz-Passarge Syndrome: Further Delineation of the Phenotype and Genetic Considerations

“…Schöpf-Schulz-Passarge syndrome was first described as an autosomal recessive condition (1). On the basis of the literature review (see Table I), nine pedigrees with two or more affected siblings and healthy parents, as well as two sporadic cases with consanguineous parents (including our patient 1) fit this hypothesis (1,5,7,9,10,14,15). Conversely, in three families the disease is clearly transmitted in a dominant fashion with occasional healthy or non-penetrant carriers (3,7,12).…”

Treatment of Multiple Apocrine Hidrocystomas with the Carbon Dioxide (CO2) Laser

“…Among the cases with multiple lesions, 6 patients have been described with between 2 and 6 apocrine hidrocystomas each 2,10 . Multiple apocrine hidrocystomas confined to the eyelids have been recognized as a feature of a new variant of ectodermal dysplasia in which they are associated with hypodontia, palmar‐plantar hyperkeratosis, and onychodystrophy 6 . The eyelid lesions may also occur independently, as was recently described in a patient who had 13 apocrine hidrocystomas on the lower eyelids, without other cutaneous abnormalities 5 .…”

Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Apocrine and Eccrine Differentiation

“…Due to the lack of association between histopathologic features, such as poor glandular differentiation, cellular atypia, necrosis, blood vessel invasion, tumor recurrence, metastasis, or overall outcome, all papillary adenocarcinoma should be considered malignant and necessitate intervention [ 112 ]. Several genetic alterations have been reported, including mutation of suppressor gene TP53 , somatic BRAF-V600E (serine/threonine-protein kinase B-Raf) mutation, and overexpression of FGFR2 (fibroblast growth factor receptor 2) ( Table 1 ) [ 20 , 21 , 22 ]. Etiology is unknown; however, a history of antecedent trauma has been reported in a few cases [ 7 ].…”